KEGG   DISEASE: Tarsal-carpal coalition 症候群
エントリ  
H00778                                                             
名称    
Tarsal-carpal coalition 症候群
概要    
Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. The fusion of the proximal interphalangeal joints starts at the fifth digit and proceeds to other digits. Humeroradial fusion can also be seen. It is inherited in an autosomal dominant pattern.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD26  主な特徴として肢の異常を伴う症候群
    H00778  Tarsal-carpal coalition 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06507  TGFB シグナリング
   H00778  Tarsal-carpal coalition 症候群
パスウェイ 
hsa04350  TGF-beta signaling pathway
ネットワーク
nt06507 TGFB signaling
病因遺伝子 
NOG [HSA:9241] [KO:K04658]
リンク   
ICD-11: LD26.3
MeSH: C536943
OMIM: 186570
文献    
  著者
Dixon ME, Armstrong P, Stevens DB, Bamshad M
  タイトル
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
  雑誌
Genet Med 3:349-53 (2001)
DOI:10.1097/00125817-200109000-00004
文献    
  著者
Potti TA, Petty EM, Lesperance MM
  タイトル
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
  雑誌
Hum Mutat 32:877-86 (2011)
DOI:10.1002/humu.21515
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